Bilateral breast nodules as an unusual manifestation of 17α-hydroxylase/17,20-lyase deficiency.

ABSTRACT:

Introduction

17α-hydroxylase/17,20-lyase deficiency (17-OHD) typically presents with sexual infantilism, hypertension, and hypokalemia. However, phenotypic variability, particularly breast development, may obscure diagnosis. This study aims to characterize an atypical presentation of 17-OHD with preserved breast development and breast nodules, and to evaluate clinical and hormonal features associated with breast development through a systematic literature review.

Methods

A 38-year-old woman with bilateral breast nodules and ductal ectasia was diagnosed with 17-OHD, confirmed by CYP17A1 variants. A literature review of 17-OHD cases with near-complete breast development (Tanner stage 4-5) was conducted to analyze clinical, hormonal, and genotypic features.

Results

SUBMITTER: Zhang M 

PROVIDER: S-EPMC12597753 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature